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Squamous cell carcinoma of the tongue in 5-year-old girl with dyskeratosis congenita
Affiliation:1. Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA;2. Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, MA, USA;1. Maxillofacial Surgery Department, Academic Hospital of Udine, Department of Medicine, University of Udine, Udine, Italy;2. Neurosurgery Department, Academic Hospital of Udine, Department of Medicine, University of Udine, Udine, Italy;3. Simulation Centre, General Surgery Department, Academic Hospital of Udine, Department of Medicine, University of Udine, Udine, Italy;1. Service de Chirurgie Maxillo-faciale et Chirurgie Plastique, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, Université de Paris, Paris, France;2. Service de Chirurgie Maxillo-faciale et Stomatologie, Hôpital Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, Sorbonne Université, Paris, France;3. Service d’Anatomopathologie, Hôpital Cochin – Port-Royal, Assistance Publique – Hôpitaux de Paris, Université de Paris, Paris, France;4. Service d’Anatomopathologie, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, Université de Paris, Paris, France;5. Service d’Anatomopathologie, Hôpital La Timone, APHM, Marseille, France;1. Postgraduate Program in Dentistry, Cruzeiro do Sul University (UNICSUL), São Paulo, Brazil;2. Department of Diagnosis and Surgery, São José dos Campos School of Dentistry, São Paulo State University (UNESP), São José dos Campos, SP, Brazil;1. Araçatuba School of Dentistry – UNESP, São Paulo, Brazil;2. Bauru School of Dentistry, University of São Paulo – USP, São Paulo, Brazil;3. Department of Diagnosis and Surgery, Araçatuba School of Dentistry – UNESP, São Paulo, Brazil
Abstract:Dyskeratosis congenita is a rare inherited bone marrow failure syndrome with three distinct clinical features: nail dystrophy, reticular skin pigmentation, and oral leukoplakia. The case of a 5-year-old female patient diagnosed with squamous cell carcinoma of the tongue is reported here. An autosomal dominant type 3 TINF2 mutation subsequently confirmed the diagnosis of dyskeratosis congenita. The traditional tongue cancer treatment was adapted for this young patient. While the tongue cancer lesions and leukoplakia were removed, the deep margins were minimized to preserve the tongue muscles and flap surgery was avoided. Additional conservative measures were applied to suppress new leukoplakia lesions.
Keywords:dyskeratosis congenita  tongue neoplasms  leukoplakia  squamous cell carcinoma  bone marrow failure disorders
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